Helping Haemophilia Patients With Preventive Treatment

Haemophilia primarily affects males, although females can be carriers.

By Dr. Varun Kaul

Rakesh, a 28-year-old male, was diagnosed with severe haemophilia at birth. Throughout his childhood, he experienced numerous joint bleeds, primarily in his knees and ankles. By the time Rakesh reached adolescence, he started experiencing chronic pain and stiffness in his knees and ankles, especially after physical activities or prolonged periods of standing. A few months back, he developed a noticeable limp and found it challenging to walk for long periods. Now, he finds it difficult to bend his knees fully, which has restricted his ability to participate or perform certain physical activities.

Haemophilia is a rare inherited bleeding disorder that impacts the capacity of the blood to clot. The patients are at risk of prolonged bleeding, both internally and externally, even from minor injuries. Haemophilia is mainly of two types. It is caused due to a deficiency or absence of specific clotting factors, like factor VIII (haemophilia A) and factor IX (haemophilia B). Haemophilia A affects 1 in 5,000 male births. India may have around 80,000-1,00,000 severe haemophilia cases, but the total number registered with Haemophilia Federation India (HFI) is only around 19,000.

Who is at risk?

Haemophilia primarily affects males, although females can be carriers. Individuals with a family history of haemophilia are at a higher risk, though spontaneous mutations can also lead to haemophilia in individuals with no family history. Some of the common symptoms include large bruises after minor injuries, joint pain from internal bleeding, nosebleeds, and unusual bleeding after surgery, dental treatment, or a minor cut.

Haemophilia is often underdiagnosed or misdiagnosed, particularly in regions with limited access to healthcare or awareness about the condition. If a person presents with symptoms suggestive of haemophilia, healthcare providers may confirm the diagnosis by conducting several tests including complete blood count (CBC), prothrombin time (PT), and activated partial thromboplastin time. The doctor may also check the levels of certain clotting factors.

Social cost of haemophilia

Haemophilia imposes a considerable social cost on individuals and their families. The financial burden of managing the disease can be substantial due to the high cost of treatment, medical consultations, and specialized care. Additionally, in underdeveloped countries, lack of access to proper treatment impacts the longevity of patients. Individuals also face challenges in education and employment opportunities, as they tend to miss school or workdays to manage their condition or recover from bleeding episodes. This can result in reduced productivity and can have a profound impact on the patients’ psychological health, leading to stress, anxiety, and depression.

Prophylaxis offers new hope

The primary treatment for haemophilia involves the replacement of the missing clotting factor. Most often, this therapy is given after a bleeding episode. However, prophylaxis or preventive treatment is now considered the gold standard for haemophilia management. This can involve either replacing the clotting factors periodically or using non-factor therapies (for example, emicizumab). By administering low-level prophylaxis early, it is possible to lower the chance of inhibitor development in previously untreated individuals. Though prophylaxis can be administered at any age, it is recommended to start at an early stage in life, ideally by the age of 3 years.

Prophylaxis has shown significant benefits by reducing the frequency of bleeds from over 40 times a year to less than two bleeds annually. This not only protects against spontaneous bleeds but also provides potential prevention against life-threatening bleeds, such as those occurring in the head or gastrointestinal tract. This has resulted in a significant reduction in disability, reduced the need for orthopaedic surgery, and improved the patient’s quality of life.

Though haemophilia cannot be cured, with appropriate management and treatment, individuals can lead active and fulfilling lives. Advocacy for greater access to prophylactic treatment and improved awareness about its advantages can improve the overall care and well-being of patients living with haemophilia.

(The author is a Pediatrician and Professor, Baba Farid University of Health Sciences, Faridkot Punjab. Views expressed are personal and do not reflect the official position or policy of the FinancialExpress.com.)